Entity Details

Primary name TBX18
Entity type gene
Source Source Link

Details

PrimaryID9096
RefseqGeneNG_046956
SymbolTBX18
NameT-box transcription factor 18
Chromosome6
Location6q14.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-02-01
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTBX18_HUMAN

GO terms

Show/Hide Table
GOName
GO:0000785 chromatin
GO:0000976 transcription cis-regulatory region binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0001708 cell fate specification
GO:0001756 somitogenesis
GO:0003163 sinoatrial node development
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0016331 morphogenesis of embryonic epithelium
GO:0042803 protein homodimerization activity
GO:0051145 smooth muscle cell differentiation
GO:0060829 negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation
GO:0060930 sinoatrial node cell fate commitment
GO:0060931 sinoatrial node cell development
GO:0072189 ureter development
GO:0090103 cochlea morphogenesis
GO:0090571 RNA polymerase II transcription repressor complex
GO:0098907 regulation of SA node cell action potential
GO:1990837 sequence-specific double-stranded DNA binding

Diseases

Show/Hide Table
Disease IDSourceNameDescription
143400 OMIMCongenital anomalies of kidney and urinary tract 2 (CAKUT2)A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
TBX18TRAF1BioGRID, IntAct32296183 details
TBX18PLEKHG4BioGRID, IntAct32296183 details
TBX18ARCBioGRID, IntAct32296183 details
TBX18KRTAP8-1BioGRID, IntAct32296183 details